Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review - Scorecard - MDSpire
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Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review
Clinical Scorecard: Case Study: Identification of a New PTHLH Nonsense Mutation in a Mother and Son with Brachydactyly Type E and Reduced Stature, Accompanied by a Genotype-Stature Analysis
At a Glance
Category
Detail
Condition
Brachydactyly Type E
Key Mechanisms
Heterozygous pathogenic variants in PTHLH lead to impaired skeletal growth and short stature.
Target Population
Individuals with brachydactyly type E and associated short stature.
Care Setting
Genetic evaluation and management in a clinical setting.
Key Highlights
Novel heterozygous nonsense variant in PTHLH identified in a mother-son pair.
Brachydactyly type E characterized by shortening of metacarpals and metatarsals.
Short stature is common but incompletely penetrant in PTHLH-associated cases.
Molecular diagnosis supports longitudinal growth monitoring rather than growth hormone therapy.
Clinical features include developmental delay and craniofacial anomalies.
Guideline-Based Recommendations
Diagnosis
Consider molecular testing for PTHLH-related disease in patients with brachydactyly and short stature.
Management
Support longitudinal growth monitoring in affected individuals.
Monitoring & Follow-up
Regular assessment of growth parameters and developmental milestones.
Risks
Potential for inter- and intrafamilial variability in clinical presentation.
Patient & Prescribing Data
Individuals diagnosed with brachydactyly type E.
Recombinant growth hormone therapy is not indicated in the absence of GH-IGF-1 axis abnormalities.
Clinical Best Practices
Recognize brachydactyly with short stature and normal biochemical findings.
Prompt consideration of PTHLH-related disease for appropriate management.
